{"orpha":251304,"name":"Infantile onset panniculitis with uveitis and systemic granulomatosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare granulomatous autoinflammatroy syndrome characterized by infantile-onset, widespread, chronic, recurrent, progressive, lobular panniculitis associated with panuveitis, arthritis and severe systemic granulomatous inflammation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251304/","orphanet_url":"https://www.orpha.net/en/disease/detail/251304","names":{"fr":{"name":"Panniculite infantile avec uvéite et granulomatose systémique","definition":"Maladie auto-inflammatoire granulomateuse rare caractérisée par une panniculite lobulaire étendue, chronique, récurrente et progressive d'apparition infantile associée à une panuvéite, une arthrite et une inflammation granulomateuse systémique sévère."},"de":{"name":"Pannikulitis mit Uveitis und systemischer Granulomatose, infantile Form"},"es":{"name":"Paniculitis de inicio en el lactante con uveitis y granulomatosis sistémica","definition":"Es una enfermedad autoinflamatoria granulomatosa poco frecuente caracterizada por paniculitis lobular crónica progresiva, recurrente, generalizada y de inicio en la lactancia, asociada a panuveitis, artritis e inflamación granulomatosa sistémica severa."},"it":{"name":"Panniculite ad esordio neonatale con uveite e granulomatosi sistemica","definition":"La panniculite ad esordio neonatale con uveite e granulomatosi sistemica è una malattia autoinfiammatoria granulomatosa rara, caratterizzata da panniculite lobulare cronica, diffusa, ricorrente e progressiva ad esordio neonatale, associata a panuveite, artrite ed infiammazione granulomatosa sistemica grave."},"nl":{"name":"Infantiele panniculitis met uveïtis en systemische granulomatose","definition":"Panniculitis met uveïtis en systemische granulomatose met infantiele aanvang is een zeldzame granulomateuze auto-inflammatoire ziekte die gekarakteriseerd wordt door infantiel aanvangende, wijdverspreide, chronische, recurrente, progressieve, lobulaire panniculitis, geassocieerd met panuveïtis, artritis en ernstige systemische granulomateuze inflammatie."},"pt":{"name":"Paniculite de início na infância com uveíte e granulomatose sistémica"},"pl":{"name":"Zapalenie tkanki tłuszczowej o początku w wieku dziecięcym z zapaleniem błony naczyniowej i ziarniniakowatością układową"},"cs":{"name":"Pannikulitida dětského věku s uveitidou a systémovou granulomatózou"},"uk":{"name":"Інфантильний паннікуліт з увеїтом та системним гранулематозом","definition":"A rare granulomatous autoinflammatroy syndrome characterized by infantile-onset, widespread, chronic, recurrent, progressive, lobular panniculitis associated with panuveitis, arthritis and severe systemic granulomatous inflammation."},"zh":{"name":"婴儿起病脂膜炎伴葡萄膜炎和全身性肉芽肿病","definition":"婴儿发作性脂膜炎合并葡萄膜炎和全身性肉芽肿是一种罕见的肉芽肿性自身炎症性疾病，以婴儿期起病、广泛、慢性、反复、进行性小叶性脂膜炎为特征，并伴有全葡萄膜炎、关节炎和严重的全身性肉芽肿炎症。"},"tr":{"name":"Üveit ve sistemik granülomatoz ile seyreden infantil başlangıçlı pannikülit"}},"xrefs":[{"source":"ICD-10","code":"M08.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EB7Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1145994427"},{"source":"MONDO","code":"0016661","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750785","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":290842,"name":"Autoinflammatory syndrome with skin involvement","classifications":[187]},{"orpha":324930,"name":"Granulomatous autoinflammatory syndrome","classifications":[196]},{"orpha":324950,"name":"Granulomatous autoinflammatory syndrome of childhood","classifications":[231]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"18035159[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18035159[PMID]"}],"phenotypes":null}